Quentin Thomas

Publication Activity (10 Years)

Years Active: 2021-2024
Publications (10 Years): 15

Top Venues

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Neurology. Genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Camille Engel, Martin Chevarin, Juliette Piard, Marine Abad, Quentin Thomas, Virginie Carmignac, Yannis Duffourd, Martine Lemesle-Martin, Georges Tarris, Christel Thauvin-Robinet, Pierre Vabres, Laurence Faivre, Paul Kuentz
Allelic heterogeneity in a patient with postzygotic MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities. Clinical genetics (2024)
Lou Grangeon, Gregoire Boulouis, Jean Capron, Fouzi Bala, Dimitri Renard, Nicolas Raposo, Ozlem Ozkul-Wermester, Aude Triquenot-Bagan, Xavier Ayrignac, David Wallon, Emmanuel Gerardin, Philippe Kerschen, Denis Sablot, Maïté Formaglio, Fernando Pico, Guillaume Turc, Marc Verny, Lisa Humbertjean, Marie Gaudron, Stéphane Vannier, Nelly Dequatre, Benoît Guillon, Clothilde Isabel, Caroline Arquizan, Olivier Detante, Sophie Godard, Barbara Casolla, Michael Levraut, Cédric Gollion, Mathieu Gerfaud-Valentin, Laurent Kremer, Laure Daelman, Nicolas Lambert, Sylvain Lanthier, Alexandre Y Poppe, Alexis Régent, David Weisenburger-Lile, Pierre Verdure, Gérald Quesney, Mathieu Vautier, Anne Wacongne, Eric Thouvenot, Jérémie Pariente, Sarah Coulette, Pierre M Labauge, Nadège Olivier, Thibaut Allou, Helene Zephir, Antoine Néel, Saskia Bresch, Benjamin Terrier, Olivier Martinaud, Romain Schneckenburger, Thomas Papo, Chloé Comarmond-Ortoli, Eric Jouvent, Marie Subréville, Louis Poncet-Megemont, Muhammad Amer Khatib, François Lun, Carole Henry, Eloi Magnin, Quentin Thomas, Mathilde Graber, Yassine Boukriche, Geneviève Blanchet-Fourcade, Diana Ratiu, Christian Pagnoux, Emmanuel Touzé, Hubert de Boysson, Sonia Alamowitch, Ahmad Nehme
Cerebral Amyloid Angiopathy-Related Inflammation and Biopsy-Positive Primary Angiitis of the CNS: A Comparative Study. Neurology 103 (2) (2024)
Lou Grangeon, Gregoire Boulouis, Jean Capron, Fouzi Bala, Dimitri Renard, Nicolas Raposo, Ozlem Ozkul-Wermester, Aude Triquenot-Bagan, Xavier Ayrignac, David Wallon, Emmanuel Gerardin, Philippe Kerschen, Denis Sablot, Maïté Formaglio, Fernando Pico, Guillaume Turc, Marc Verny, Lisa Humbertjean, Marie Gaudron, Stéphane Vannier, Nelly Dequatre, Benoît Guillon, Clothilde Isabel, Caroline Arquizan, Olivier Detante, Sophie Godard, Barbara Casolla, Michael Levraut, Cédric Gollion, Mathieu Gerfaud-Valentin, Laurent Kremer, Laure Daelman, Nicolas Lambert, Sylvain Lanthier, Alexandre Y Poppe, Alexis Régent, David Weisenburger-Lile, Pierre Verdure, Gérald Quesney, Mathieu Vautier, Anne Wacongne, Eric Thouvenot, Jérémie Pariente, Sarah Coulette, Pierre M Labauge, Nadège Olivier, Thibaut Allou, Helene Zephir, Antoine Néel, Saskia Bresch, Benjamin Terrier, Olivier Martinaud, Romain Schneckenburger, Thomas Papo, Chloé Comarmond-Ortoli, Eric Jouvent, Marie Subréville, Louis Poncet-Megemont, Muhammad Amer Khatib, François Lun, Carole Henry, Eloi Magnin, Quentin Thomas, Mathilde Graber, Yassine Boukriche, Geneviève Blanchet-Fourcade, Diana Ratiu, Christian Pagnoux, Emmanuel Touzé, Hubert de Boysson, Sonia Alamowitch, Ahmad Nehme
Cerebral Amyloid Angiopathy-Related Inflammation and Biopsy-Positive Primary Angiitis of the CNS: A Comparative Study. Neurology 103 (2) (2024)
Camille Engel, Martin Chevarin, Juliette Piard, Marine Abad, Quentin Thomas, Virginie Carmignac, Yannis Duffourd, Martine Lemesle-Martin, Georges Tarris, Christel Thauvin-Robinet, Pierre Vabres, Laurence Faivre, Paul Kuentz
Allelic heterogeneity in a patient with postzygotic MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities. Clinical genetics 105 (5) (2024)
Camille Engel, Martin Chevarin, Juliette Piard, Marine Abad, Quentin Thomas, Virginie Carmignac, Yannis Duffourd, Martine Lemesle-Martin, Georges Tarris, Christel Thauvin-Robinet, Pierre Vabres, Laurence Faivre, Paul Kuentz
Allelic heterogeneity in a patient with postzygotic MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities. Clinical genetics 105 (5) (2024)
Camille Engel, Martin Chevarin, Juliette Piard, Marine Abad, Quentin Thomas, Virginie Carmignac, Yannis Duffourd, Martine Lemesle-Martin, Georges Tarris, Christel Thauvin-Robinet, Pierre Vabres, Laurence Faivre, Paul Kuentz
Allelic heterogeneity in a patient with postzygotic MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities. Clinical genetics 105 (5) (2024)
Angélique Hamamie-Chaar, Mathilde Renaud, Pinar Gençpinar, Ange-Line Bruel, Christophe Philippe, Julien Maraval, Caroline Racine, Nawale Hadouiri, Laetitia Lambert, Emmanuelle Schmitt, Guillaume Banneau, Armand Hocquel, Christel Thauvin-Robinet, Laurence Faivre, Quentin Thomas
Patients with complex and very-early-onset ATL1-related spastic paraplegia offer insights on genotype/phenotype correlations and support for autosomal recessive forms of SPG3A. Journal of neurology (2024)
Sean Massey, Yiran Guo, Lisa G Riley, Nicole J Van Bergen, Sarah A Sandaradura, Elizabeth McCusker, Michel C Tchan, Christel Thauvin-Robinet, Quentin Thomas, Thibault Moreau, Mark Davis, Daphne Smits, Grazia M S Mancini, Hakon Hakonarson, Sandra Cooper, John Chrisodoulou
Expanding the Allelic Heterogeneity of ANO10 -Associated Autosomal Recessive Cerebellar Ataxia. Neurology. Genetics 9 (1) (2023)
Quentin Thomas, Antonio Vitobello, Agnès Fromont, Christophe Philippe, Christel Thauvin-Robinet
A rare double diagnosis identified via exome sequencing in a patient with complex cerebellar ataxia: a case report. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (2023)
Sean Massey, Yiran Guo, Lisa G Riley, Nicole J Van Bergen, Sarah A Sandaradura, Elizabeth McCusker, Michel C Tchan, Christel Thauvin-Robinet, Quentin Thomas, Thibault Moreau, Mark Davis, Daphne Smits, Grazia M S Mancini, Hakon Hakonarson, Sandra Cooper, John Chrisodoulou
Expanding the Allelic Heterogeneity of ANO10 -Associated Autosomal Recessive Cerebellar Ataxia. Neurology. Genetics 9 (1) (2023)
Quentin Thomas, Marie-Catherine Morgant, Sophie Nambot, Christel Thauvin-Robinet, Maurice Giroud
Asymmetric crying facies in an elderly, when a facial asymmetry is not a facial paralysis but a marker of possible congenital malformations: case report and review of the literature. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (2022)
Aboudou Matinou Do Rego, Gauthier Duloquin, Marie Sauvant, Simon Amaral, Quentin Thomas, Hervé Devilliers, Yannick Bejot
Quality of Life in the First Year after Ischemic Stroke Treated with Acute Revascularization Therapy. Journal of clinical medicine 11 (11) (2022)
Quentin Thomas, Antonio Vitobello, Frederic Tran Mau-Them, Yannis Duffourd, Agnès Fromont, Maurice Giroud, Benoit Daubail, Agnès Jacquin-Piques, Marie Hervieu-Begue, Thibault Moreau, Guy-Victor Osseby, Philippine Garret, Sophie Nambot, Julian Delanne, Ange-Line Bruel, Arthur Sorlin, Patrick Callier, Anne-Sophie Denomme-Pichon, Laurence Olivier-Faivre, Yannick Béjot, Christophe Philippe, Christel Thauvin-Robinet, Sébastien Moutton
High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics. Journal of medical genetics (2021)
Nawale Hadouiri, Quentin Thomas, Véronique Darmency, Véronique Dulieu, Marie-Gabrielle Mourot De Rougemont, Ange-Line Bruel, Yannis Duffourd, François Lecoquierre, Benoit Colomb, Stéphanie Perez-Martin, Paul Ornetti, Olivier Blanchard, Arthur Sorlin, Christophe Philippe, Laurence Faivre, Antonio Vitobello, Christel Thauvin-Robinet
Homozygous TRAPPC11 truncating variant revealing segmental uniparental disomy of chromosome 4 as a cause of a recessive limb-girdle muscular dystrophy-18. Clinical genetics 100 (5) (2021)
Quentin Thomas, Thierry Gautier, Dana Marafi, Thomas Besnard, Marjolaine Willems, Sébastien Moutton, Bertand Isidor, Benjamin Cogné, Solène Conrad, Romano Tenconi, Maria Iascone, Arthur Sorlin, Alice Masurel, Tabib Dabir, Adam Jackson, Siddharth Banka, Julian Delanne, James R Lupski, Nebal Waill Saadi, Fowzan S Alkuraya, Fatema Al Zahrani, Pankaj B Agrawal, Eleina England, Jill A Madden, Jennifer E Posey, Lydie Burglen, Diana Rodriguez, Martin Chevarin, Sylvie Nguyen, Frédéric Tran Mau-Them, Yannis Duffourd, Philippine Garret, Ange-Line Bruel, Patrick Callier, Nathalie Marle, Anne-Sophie Denomme-Pichon, Laurence Duplomb, Christophe Philippe, Christel Thauvin-Robinet, Jérôme Govin, Laurence Faivre, Antonio Vitobello
Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity. Genetics in medicine : official journal of the American College of Medical Genetics 23 (10) (2021)

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Publication Activity (10 Years)

Top Topics

Top Venues

Quentin Thomas